rs33952147
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33952147(C;C) |
| Make rs33952147(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226633 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33952147 |
| dbSNP (classic) | rs33952147 |
| ClinGen | rs33952147 |
| ebi | rs33952147 |
| HLI | rs33952147 |
| Exac | rs33952147 |
| Gnomad | rs33952147 |
| Varsome | rs33952147 |
| LitVar | rs33952147 |
| Map | rs33952147 |
| PheGenI | rs33952147 |
| Biobank | rs33952147 |
| 1000 genomes | rs33952147 |
| hgdp | rs33952147 |
| ensembl | rs33952147 |
| geneview | rs33952147 |
| scholar | rs33952147 |
| rs33952147 | |
| pharmgkb | rs33952147 |
| gwascentral | rs33952147 |
| openSNP | rs33952147 |
| 23andMe | rs33952147 |
| SNPshot | rs33952147 |
| SNPdbe | rs33952147 |
| MSV3d | rs33952147 |
| GWAS Ctlg | rs33952147 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33952147(A;A) rs33952147(C;C) |
| Alt | rs33952147(A;A) rs33952147(C;C) |
| Reference | Rs33952147(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN POISSY HEMOGLOBIN CARDARELLI |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN POISSY HEMOGLOBIN CARDARELLI |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247863C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016553.2, RCV000016878.2, |
[PMID 15182052] Hb Cardarelli [beta86(F2)Ala-->Pro]: a new unstable and hyperaffine variant in association with beta(+)-thalassemia.
